Incidental Mutation 'R1644:Agap1'
| ID |
173733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agap1
|
| Ensembl Gene |
ENSMUSG00000055013 |
| Gene Name |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
| Synonyms |
Ggap1, Centg2 |
| MMRRC Submission |
039680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R1644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89382533-89823004 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89591452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 114
(N114S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027521]
[ENSMUST00000074945]
[ENSMUST00000190096]
|
| AlphaFold |
Q8BXK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027521
AA Change: N248S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: N248S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
73 |
231 |
1.1e-18 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
PH
|
347 |
590 |
1.36e-15 |
SMART |
|
ArfGap
|
609 |
729 |
4.58e-51 |
SMART |
|
ANK
|
768 |
797 |
1.83e-3 |
SMART |
|
ANK
|
801 |
832 |
1.33e2 |
SMART |
|
low complexity region
|
840 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074945
AA Change: N114S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: N114S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
73 |
181 |
5e-24 |
PFAM |
|
Pfam:Ras
|
73 |
231 |
3e-19 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
PH
|
347 |
537 |
7.93e-17 |
SMART |
|
ArfGap
|
556 |
676 |
4.58e-51 |
SMART |
|
ANK
|
715 |
744 |
1.83e-3 |
SMART |
|
ANK
|
748 |
779 |
1.33e2 |
SMART |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190096
AA Change: N248S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: N248S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
73 |
181 |
5e-24 |
PFAM |
|
Pfam:Ras
|
73 |
231 |
3e-19 |
PFAM |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
PH
|
347 |
537 |
7.93e-17 |
SMART |
|
ArfGap
|
556 |
676 |
4.58e-51 |
SMART |
|
ANK
|
715 |
744 |
1.83e-3 |
SMART |
|
ANK
|
748 |
779 |
1.33e2 |
SMART |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0666 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,484,814 (GRCm39) |
R8* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,346 (GRCm39) |
H490L |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,875,932 (GRCm39) |
H417N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,298 (GRCm39) |
N151D |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,117,298 (GRCm39) |
V926D |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,112,340 (GRCm39) |
I8N |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,578,711 (GRCm39) |
F746I |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,612 (GRCm39) |
S471P |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,448 (GRCm39) |
V979A |
probably benign |
Het |
| Ccdc88c |
C |
A |
12: 100,879,733 (GRCm39) |
R1789L |
probably damaging |
Het |
| Cckar |
A |
T |
5: 53,857,215 (GRCm39) |
N327K |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,956,334 (GRCm39) |
T1082A |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,672 (GRCm39) |
I719N |
probably damaging |
Het |
| Col27a1 |
C |
G |
4: 63,246,868 (GRCm39) |
|
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,663 (GRCm39) |
T179I |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,024,249 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,132,279 (GRCm39) |
V1141A |
probably benign |
Het |
| Dusp4 |
A |
G |
8: 35,285,633 (GRCm39) |
Y298C |
probably damaging |
Het |
| Efhc1 |
C |
A |
1: 21,037,625 (GRCm39) |
Y267* |
probably null |
Het |
| Eif2s1 |
T |
A |
12: 78,913,295 (GRCm39) |
|
probably null |
Het |
| Epo |
A |
G |
5: 137,481,417 (GRCm39) |
V169A |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,951,380 (GRCm39) |
Y586F |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,178,609 (GRCm39) |
T1484A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,007 (GRCm39) |
T1280A |
possibly damaging |
Het |
| Gm5828 |
T |
C |
1: 16,839,485 (GRCm39) |
|
noncoding transcript |
Het |
| Idh3b |
T |
C |
2: 130,123,430 (GRCm39) |
I187V |
possibly damaging |
Het |
| Kif13a |
A |
C |
13: 46,947,398 (GRCm39) |
V862G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,510,669 (GRCm39) |
D1327G |
probably damaging |
Het |
| Mfsd9 |
T |
A |
1: 40,812,958 (GRCm39) |
R452S |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,952,566 (GRCm39) |
R879C |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,319,437 (GRCm39) |
R260G |
possibly damaging |
Het |
| Npat |
T |
G |
9: 53,481,472 (GRCm39) |
L1060R |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,156 (GRCm39) |
H159L |
probably benign |
Het |
| Or4c126 |
A |
T |
2: 89,824,297 (GRCm39) |
T187S |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,759,731 (GRCm39) |
D309E |
probably benign |
Het |
| Or52n2b |
A |
C |
7: 104,566,015 (GRCm39) |
F163V |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,561 (GRCm39) |
V176A |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,803,192 (GRCm39) |
T296A |
possibly damaging |
Het |
| Polq |
C |
T |
16: 36,880,626 (GRCm39) |
A651V |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,520,692 (GRCm39) |
P607S |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,566,015 (GRCm39) |
R424C |
probably damaging |
Het |
| Rsl1 |
G |
A |
13: 67,325,229 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,589,885 (GRCm39) |
S490P |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,079,603 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,834,595 (GRCm39) |
I492T |
possibly damaging |
Het |
| Stag1 |
T |
C |
9: 100,762,953 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,880,481 (GRCm39) |
Y294C |
probably damaging |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,757 (GRCm39) |
S212P |
probably benign |
Het |
| Tmcc1 |
A |
G |
6: 116,110,826 (GRCm39) |
S156P |
probably damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,670 (GRCm39) |
M139L |
probably benign |
Het |
| Vmn1r209 |
A |
C |
13: 22,990,652 (GRCm39) |
F13V |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,141 (GRCm39) |
E467G |
probably benign |
Het |
| Zdbf2 |
C |
T |
1: 63,348,131 (GRCm39) |
S2170L |
possibly damaging |
Het |
| Zfp277 |
G |
T |
12: 40,379,609 (GRCm39) |
|
probably null |
Het |
| Zfp62 |
T |
C |
11: 49,106,596 (GRCm39) |
I229T |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,324 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,927 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Agap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Agap1
|
APN |
1 |
89,591,518 (GRCm39) |
splice site |
probably benign |
|
|
IGL00310:Agap1
|
APN |
1 |
89,815,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01104:Agap1
|
APN |
1 |
89,653,797 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Agap1
|
APN |
1 |
89,591,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02959:Agap1
|
APN |
1 |
89,770,913 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03303:Agap1
|
APN |
1 |
89,592,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K3955:Agap1
|
UTSW |
1 |
89,815,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Agap1
|
UTSW |
1 |
89,816,466 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Agap1
|
UTSW |
1 |
89,598,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Agap1
|
UTSW |
1 |
89,598,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Agap1
|
UTSW |
1 |
89,770,972 (GRCm39) |
splice site |
probably benign |
|
|
R1104:Agap1
|
UTSW |
1 |
89,716,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1160:Agap1
|
UTSW |
1 |
89,770,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1439:Agap1
|
UTSW |
1 |
89,770,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Agap1
|
UTSW |
1 |
89,765,528 (GRCm39) |
splice site |
probably null |
|
|
R1984:Agap1
|
UTSW |
1 |
89,694,045 (GRCm39) |
missense |
probably benign |
|
|
R2141:Agap1
|
UTSW |
1 |
89,765,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3966:Agap1
|
UTSW |
1 |
89,762,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4195:Agap1
|
UTSW |
1 |
89,762,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4669:Agap1
|
UTSW |
1 |
89,765,528 (GRCm39) |
splice site |
probably null |
|
|
R4951:Agap1
|
UTSW |
1 |
89,537,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5525:Agap1
|
UTSW |
1 |
89,671,495 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5843:Agap1
|
UTSW |
1 |
89,537,272 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5930:Agap1
|
UTSW |
1 |
89,770,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Agap1
|
UTSW |
1 |
89,558,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Agap1
|
UTSW |
1 |
89,558,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Agap1
|
UTSW |
1 |
89,694,177 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7027:Agap1
|
UTSW |
1 |
89,816,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7207:Agap1
|
UTSW |
1 |
89,770,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7268:Agap1
|
UTSW |
1 |
89,694,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7289:Agap1
|
UTSW |
1 |
89,383,153 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R7689:Agap1
|
UTSW |
1 |
89,762,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Agap1
|
UTSW |
1 |
89,770,793 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7801:Agap1
|
UTSW |
1 |
89,558,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Agap1
|
UTSW |
1 |
89,558,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8364:Agap1
|
UTSW |
1 |
89,815,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Agap1
|
UTSW |
1 |
89,537,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Agap1
|
UTSW |
1 |
89,694,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9040:Agap1
|
UTSW |
1 |
89,671,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9254:Agap1
|
UTSW |
1 |
89,653,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Agap1
|
UTSW |
1 |
89,765,485 (GRCm39) |
missense |
probably benign |
|
|
RF015:Agap1
|
UTSW |
1 |
89,561,985 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTGGGCCATGATCACCCTG -3'
(R):5'- AGAGATGGATGACAGCTTTGGCAC -3'
Sequencing Primer
(F):5'- TGATCACCCTGGGAAATGTC -3'
(R):5'- TCCAGTACCTGGCTGATGTGTA -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation